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Canonical Allele Identifier: Get Identifier
Gene: PKHD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016866435.1:p.[Leu3052_Gly3072delinsPheGlyLeuThrMetTrpArgIleGlnValPheMetAlaPheIleSerIleArgLysValAsp;Asp3074_Ile3079delinsThrThrValProGlu;Gly3081Leu]
CA1139659317
XM_017010946.2:c.9153del